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6q16 microdeletion syndrome

Disease definition

A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

ORPHA:171829

Classification level: Disorder
  • Synonym(s):
    • Del(6)(q16)
    • Monosomy 6q16
    • Prader-Willi-like syndrome due to microdeletion 6q16
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q93.5
  • ICD-11: LD29
  • OMIM: -
  • UMLS: C5438727
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Detailed information

General public

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.